RGD:155917012 Rat Genome Database

RGD:155917012 Rat Genome Database

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Variant: RGD:155917012 - Homo sapiens

RGD ID:

155917012

ClinVar ID:

CV2239899

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

Reference Nucleotide:

A

Variant Nucleotide:

C

Position

Assembly	Chr	Position
GRCh37	12	105,321,936
GRCh38	12	104,928,158

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_001387127.1:c.370T>G NM_001387128.1:c.370T>G NM_001387129.1:c.370T>G NM_001387126.1:c.370T>G More...	10/18/2021	missense variant	uncertain significance	AllHighlyPenetrant

Gene Symbol:	SLC41A2
Accession:	NM_001352172
Location:	EXON
Amino Acid Prediction:	S to A (nonsynonymous)
Amino Acid Position:	124

Amino Acid Sequence (Calculated using NCBI transcript definition)
MTNSKGRSITDKTSGGPSSGGGFVDWTLRLNTIQSDKFLNLLLSMVPVIYQKNQEDRHKKANGIWQDGLSTAVQTFSNRS EQHMEYHSFSEQSFHANNGHASSSCSQKYDDYANYNYCDGRETAETTAMLQDEDISSDGDEDAIVEVTPKLPKESSGIMA LQILVPFLLAGFGTVSAGMVLDIVQHWEVFRKVTEVFILVPALLGLKGNLEMTLASRLSTAVNIGKMDSPIEKWNLIIGN LALKQVQATVVGFLAAVAAIILGWIPEGKYYLDHSILLCSSSVATAFIASLLQGIIMVGVIVGSKKTGINPDNVATPIAA SFGDLITLAILAWISQGLYSCLETYYYISPLVGVFFLALTPIWIIIAAKHPATRTVLHSGWEPVITAMVISSIGGLILDT TVSDPNLVGIVVYTPVINGIGGNLVAIQASRISTYLHLHSIPGELPDEPKGCYYPFRTFFGPGVNNKSAQVLLLLVIPGH LIFLYTIHLMKSGHTSLTIIFIVVYLFGAVLQVFTLLWIADWMVHHFWRKGKDPDSFSIPYLTALGDLLGTALLALSFHF LWLIGDRDGDVGD*

Gene Symbol:	SLC41A2
Accession:	NM_001387129
Location:	EXON
Amino Acid Prediction:	S to A (nonsynonymous)
Amino Acid Position:	124

Amino Acid Sequence (Calculated using NCBI transcript definition)
MTNSKGRSITDKTSGGPSSGGGFVDWTLRLNTIQSDKFLNLLLSMVPVIYQKNQEDRHKKANGIWQDGLSTAVQTFSNRS EQHMEYHSFSEQSFHANNGHASSSCSQKYDDYANYNYCDGRETAETTAMLQDEDISSDGDEDAIVEVTPKLPKESSGIMA LQILVPFLLAGFGTVSAGMVLDIVQHWEVFRKVTEVFILVPALLGLKGNLEMTLASRLSTAVNIGKMDSPIEKWNLIIGN LALKQVQATVVGFLAAVAAIILGWIPEGKYYLDHSILLCSSSVATAFIASLLQGIIMVGVIVGSKKTGINPDNVATPIAA SFGDLITLAILAWISQGLYSCLETYYYISPLVGVFFLALTPIWIIIAAKHPATRTVLHSGWEPVITAMVISSIGGLILDT TVSDPNLVGIVVYTPVINGIGGNLVAIQASRISTYLHLHSIPGELPDEPKGCYYPFRTFFGPGVNNKSAQVLLLLVIPGH LIFLYTIHLMKSGHTSLTIIFIVVYLFGAVLQIGMLGLQASDAQKMK*

Gene Symbol:	SLC41A2
Accession:	NM_001387130
Location:	EXON
Amino Acid Prediction:	S to A (nonsynonymous)
Amino Acid Position:	124

Amino Acid Sequence (Calculated using NCBI transcript definition)
MTNSKGRSITDKTSGGPSSGGGFVDWTLRLNTIQSDKFLNLLLSMVPVIYQKNQEDRHKKANGIWQDGLSTAVQTFSNRS EQHMEYHSFSEQSFHANNGHASSSCSQKYDDYANYNYCDGRETAETTAMLQDEDISSDGDEDAIVEVTPKLPKESSGIMA LQILVPFLLAGFGTVSAGMVLDIVQHWEVFRKVTEVFILVPALLGLKGNLEMTLASRLSTAVNIGKMDSPIEKWNLIIGN LALKQVQATVVGFLAAVAAIILGWIPEGKYYLDHSILLCSSSVATAFIASLLQGIIMVGVIVGSKKTGINPDNVATPIAA SFGDLITLAILAWISQGLYSCLETYYYISPLVGVFFLALTPIWIIIAAKHPATRTVLHSGWEPVITAMVISSIGGLILDT TVSDPNLVGIVVYTPVINGIGGNLVAIQASRISTYLHLHSIPGELPDEPKGCYYPFRTFFGPGVNNKSAQVLLLLVIPGH LIFLYTIHLMKSGHTSLTIIFIVVYLFGAVLQIGMLGLQASDAQKMK*

Gene Symbol:	SLC41A2
Accession:	NM_001387132
Location:	EXON
Amino Acid Prediction:	S to A (nonsynonymous)
Amino Acid Position:	124

Amino Acid Sequence (Calculated using NCBI transcript definition)
MTNSKGRSITDKTSGGPSSGGGFVDWTLRLNTIQSDKFLNLLLSMVPVIYQKNQEDRHKKANGIWQDGLSTAVQTFSNRS EQHMEYHSFSEQSFHANNGHASSSCSQKYDDYANYNYCDGRETAETTAMLQDEDISSDGDEDAIVEVTPKLPKESSGIMA LQILVPFLLAGFGTVSAGMVLDIVQHWEVFRKVTEVFILVPALLGLKGNLEMTLASRLSTAVNIGKMDSPIEKWNLIIGN LALKQVQATVVGFLAAVAAIILGWIPEGKYYLDHSILLCSSSVATAFIASLLQGIIMVGVIVGSKKTGINPDNVATPIAA SFGDLITLAILAWISQGLYSCLETYYYISPLVGVFFLALTPIWIIIAAKHPATRTVLHSGWEPVITAMVISRLVLKYVCV CVCVCVCVYVCLSLCVFYKHICTCILK*

Gene Symbol:	SLC41A2
Accession:	NM_001387125
Location:	EXON
Amino Acid Prediction:	S to A (nonsynonymous)
Amino Acid Position:	124

Amino Acid Sequence (Calculated using NCBI transcript definition)
MTNSKGRSITDKTSGGPSSGGGFVDWTLRLNTIQSDKFLNLLLSMVPVIYQKNQEDRHKKANGIWQDGLSTAVQTFSNRS EQHMEYHSFSEQSFHANNGHASSSCSQKYDDYANYNYCDGRETAETTAMLQDEDISSDGDEDAIVEVTPKLPKESSGIMA LQILVPFLLAGFGTVSAGMVLDIVQHWEVFRKVTEVFILVPALLGLKGNLEMTLASRLSTAVNIGKMDSPIEKWNLIIGN LALKQVQATVVGFLAAVAAIILGWIPEGKYYLDHSILLCSSSVATAFIASLLQGIIMVGVIVGSKKTGINPDNVATPIAA SFGDLITLAILAWISQGLYSCLETYYYISPLVGVFFLALTPIWIIIAAKHPATRTVLHSGWEPVITAMVISSIGGLILDT TVSDPNLVGIVVYTPVINGIGGNLVAIQASRISTYLHLHSIPGELPDEPKGCYYPFRTFFGPGVNNKSAQVLLLLVIPGH LIFLYTIHLMKSGHTSLTIIFIVVYLFGAVLQVFTLLWIADWMVHHFWRKGKDPDSFSIPYLTALGDLLGTALLALSFHF LWLIGDRDGDVGD*

Gene Symbol:	SLC41A2
Accession:	NM_032148
Location:	EXON
Amino Acid Prediction:	S to A (nonsynonymous)
Amino Acid Position:	124

Amino Acid Sequence (Calculated using NCBI transcript definition)
MTNSKGRSITDKTSGGPSSGGGFVDWTLRLNTIQSDKFLNLLLSMVPVIYQKNQEDRHKKANGIWQDGLSTAVQTFSNRS EQHMEYHSFSEQSFHANNGHASSSCSQKYDDYANYNYCDGRETAETTAMLQDEDISSDGDEDAIVEVTPKLPKESSGIMA LQILVPFLLAGFGTVSAGMVLDIVQHWEVFRKVTEVFILVPALLGLKGNLEMTLASRLSTAVNIGKMDSPIEKWNLIIGN LALKQVQATVVGFLAAVAAIILGWIPEGKYYLDHSILLCSSSVATAFIASLLQGIIMVGVIVGSKKTGINPDNVATPIAA SFGDLITLAILAWISQGLYSCLETYYYISPLVGVFFLALTPIWIIIAAKHPATRTVLHSGWEPVITAMVISSIGGLILDT TVSDPNLVGIVVYTPVINGIGGNLVAIQASRISTYLHLHSIPGELPDEPKGCYYPFRTFFGPGVNNKSAQVLLLLVIPGH LIFLYTIHLMKSGHTSLTIIFIVVYLFGAVLQVFTLLWIADWMVHHFWRKGKDPDSFSIPYLTALGDLLGTALLALSFHF LWLIGDRDGDVGD*

Gene Symbol:	SLC41A2
Accession:	NM_001387133
Location:	EXON
Amino Acid Prediction:	S to A (nonsynonymous)
Amino Acid Position:	124

Amino Acid Sequence (Calculated using NCBI transcript definition)
MTNSKGRSITDKTSGGPSSGGGFVDWTLRLNTIQSDKFLNLLLSMVPVIYQKNQEDRHKKANGIWQDGLSTAVQTFSNRS EQHMEYHSFSEQSFHANNGHASSSCSQKYDDYANYNYCDGRETAETTAMLQDEDISSDGDEDAIVEVTPKLPKESSGIMA LQILVPFLLAGFGTVSAGMVLDIVQHWEVFRKVTEVFILVPALLGLKGNLEMTLASRLSTAVNIGKMDSPIEKWNLIIGN LALKQVQATVVGFLAAVAAIILGWIPEGKYYLDHSILLCSSSVATAFIASLLQGIIMVGVIVGSKKTGINPDNVATPIAA SFGDLITLAILAWISQGLYSCLETYYYISPLVGVFFLALTPIWIIIAAKHPATRTVLHSGWEPVITAMVISRLVLKYVCV CVCVCVCVYVCLSLCVFYKHICTCILK*

Gene Symbol:	SLC41A2
Accession:	XM_011538811
Location:	EXON
Amino Acid Prediction:	S to A (nonsynonymous)
Amino Acid Position:	124

Amino Acid Sequence (Calculated using NCBI transcript definition)
MTNSKGRSITDKTSGGPSSGGGFVDWTLRLNTIQSDKFLNLLLSMVPVIYQKNQEDRHKKANGIWQDGLSTAVQTFSNRS EQHMEYHSFSEQSFHANNGHASSSCSQKYDDYANYNYCDGRETAETTAMLQDEDISSDGDEDAIVEVTPKLPKESSGIMA LQILVPFLLAGFGTVSAGMVLDIVQHWEVFRKVTEVFILVPALLGLKGNLEMTLASRLSTAVNIGKMDSPIEKWNLIIGN LALKQVQATVVGFLAAVAAIILGWIPEGKYYLDHSILLCSSSVATAFIASLLQGIIMVGVIVGSKKTGINPDNVATPIAA SFGDLITLAILAWISQGLYSCLETYYYISPLVGVFFLALTPIWIIIAAKHPATRTVLHSGWEPVITAMVISSIGGLILDT TVSDPNLVGIVVYTPVINGIGGNLVAIQASRISTYLHLHSIPGELPDEPKGCYYPFRTFFGPGVNNKSAQVLLLLVIPGH LIFLYTIHLMKSGHTSLTIIFIVVYLFGAVLQVFTLLWIADWMVHHFWRKGKDPDSFSIPYLTALGDLLGTALLALSFHF LWLIGDRDGDVGD*

Gene Symbol:	SLC41A2
Accession:	XM_047429649
Location:	EXON
Amino Acid Prediction:	S to A (nonsynonymous)
Amino Acid Position:	124

Amino Acid Sequence (Calculated using NCBI transcript definition)
MTNSKGRSITDKTSGGPSSGGGFVDWTLRLNTIQSDKFLNLLLSMVPVIYQKNQEDRHKKANGIWQDGLSTAVQTFSNRS EQHMEYHSFSEQSFHANNGHASSSCSQKYDDYANYNYCDGRETAETTAMLQDEDISSDGDEDAIVEVTPKLPKESSGIMA LQILVPFLLAGFGTVSAGMVLDIVQHWEVFRKVTEVFILVPALLGLKGNLEMTLASRLSTAVNIGKMDSPIEKWNLIIGN LALKQVQATVVGFLAAVAAIILGWIPEGKYYLDHSILLCSSSVATAFIASLLQGIIMVGVIVGSKKTGINPDNVATPIAA SFGDLITLAILAWISQGLYSCLETYYYISPLVGVFFLALTPIWIIIAAKHPATRTVLHSGWEPVITAMVISSIGGLILDT TVSDPNLVGIVVYTPVINGIGGNLVAIQASRISTYLHLHSIPGELPDEPKGCYYPFRTFFGPGVNNKSAQVLLLLVIPGH LIFLYTIHLMKSGHTSLTIIFIVVYLFGAVLQIGMLGLQASDAQKMK*

Gene Symbol:	SLC41A2
Accession:	XM_017020013
Location:	EXON
Amino Acid Prediction:	S to A (nonsynonymous)
Amino Acid Position:	124

Amino Acid Sequence (Calculated using NCBI transcript definition)
MTNSKGRSITDKTSGGPSSGGGFVDWTLRLNTIQSDKFLNLLLSMVPVIYQKNQEDRHKKANGIWQDGLSTAVQTFSNRS EQHMEYHSFSEQSFHANNGHASSSCSQKYDDYANYNYCDGRETAETTAMLQDEDISSDGDEDAIVEVTPKLPKESSGIMA LQILVPFLLAGFGTVSAGMVLDIVQHWEVFRKVTEVFILVPALLGLKGNLEMTLASRLSTAVNIGKMDSPIEKWNLIIGN LALKQVQATVVGFLAAVAAIILGWIPEGKYYLDHSILLCSSSVATAFIASLLQGIIMVGVIVGSKKTGINPDNVATPIAA SFGDLITLAILAWISQGLYSCLETYYYISPLVGVFFLALTPIWIIIAAKHPATRTVLHSGWEPVITAMVISSIGGLILDT TVSDPNLVGIVVYTPVINGIGGNLVAIQASRISTYLHLHSIPGELPDEPKGCYYPFRTFFGPGVNNKSAQVLLLLVIPGH LIFLYTIHLMKSGHTSLTIIFIVVYLFGAVLQVFTLLWIADWMVHHFWRKGKDPDSFSIPYLTALGDLLGTALLALSFHF LWLIGDRDGDVGD*

Gene Symbol:	SLC41A2
Accession:	NM_001352169
Location:	EXON
Amino Acid Prediction:	S to A (nonsynonymous)
Amino Acid Position:	124

Amino Acid Sequence (Calculated using NCBI transcript definition)
MTNSKGRSITDKTSGGPSSGGGFVDWTLRLNTIQSDKFLNLLLSMVPVIYQKNQEDRHKKANGIWQDGLSTAVQTFSNRS EQHMEYHSFSEQSFHANNGHASSSCSQKYDDYANYNYCDGRETAETTAMLQDEDISSDGDEDAIVEVTPKLPKESSGIMA LQILVPFLLAGFGTVSAGMVLDIVQHWEVFRKVTEVFILVPALLGLKGNLEMTLASRLSTAVNIGKMDSPIEKWNLIIGN LALKQVQATVVGFLAAVAAIILGWIPEGKYYLDHSILLCSSSVATAFIASLLQGIIMVGVIVGSKKTGINPDNVATPIAA SFGDLITLAILAWISQGLYSCLETYYYISPLVGVFFLALTPIWIIIAAKHPATRTVLHSGWEPVITAMVISSIGGLILDT TVSDPNLVGIVVYTPVINGIGGNLVAIQASRISTYLHLHSIPGELPDEPKGCYYPFRTFFGPGVNNKSAQVLLLLVIPGH LIFLYTIHLMKSGHTSLTIIFIVVYLFGAVLQVFTLLWIADWMVHHFWRKGKDPDSFSIPYLTALGDLLGTALLALSFHF LWLIGDRDGDVGD*

Gene Symbol:	SLC41A2
Accession:	NM_001352171
Location:	EXON
Amino Acid Prediction:	S to A (nonsynonymous)
Amino Acid Position:	124

Amino Acid Sequence (Calculated using NCBI transcript definition)
MTNSKGRSITDKTSGGPSSGGGFVDWTLRLNTIQSDKFLNLLLSMVPVIYQKNQEDRHKKANGIWQDGLSTAVQTFSNRS EQHMEYHSFSEQSFHANNGHASSSCSQKYDDYANYNYCDGRETAETTAMLQDEDISSDGDEDAIVEVTPKLPKESSGIMA LQILVPFLLAGFGTVSAGMVLDIVQHWEVFRKVTEVFILVPALLGLKGNLEMTLASRLSTAVNIGKMDSPIEKWNLIIGN LALKQVQATVVGFLAAVAAIILGWIPEGKYYLDHSILLCSSSVATAFIASLLQGIIMVGVIVGSKKTGINPDNVATPIAA SFGDLITLAILAWISQGLYSCLETYYYISPLVGVFFLALTPIWIIIAAKHPATRTVLHSGWEPVITAMVISSIGGLILDT TVSDPNLVGIVVYTPVINGIGGNLVAIQASRISTYLHLHSIPGELPDEPKGCYYPFRTFFGPGVNNKSAQVLLLLVIPGH LIFLYTIHLMKSGHTSLTIIFIVVYLFGAVLQVFTLLWIADWMVHHFWRKGKDPDSFSIPYLTALGDLLGTALLALSFHF LWLIGDRDGDVGD*

Gene Symbol:	SLC41A2
Accession:	NM_001387127
Location:	EXON
Amino Acid Prediction:	S to A (nonsynonymous)
Amino Acid Position:	124

Amino Acid Sequence (Calculated using NCBI transcript definition)
MTNSKGRSITDKTSGGPSSGGGFVDWTLRLNTIQSDKFLNLLLSMVPVIYQKNQEDRHKKANGIWQDGLSTAVQTFSNRS EQHMEYHSFSEQSFHANNGHASSSCSQKYDDYANYNYCDGRETAETTAMLQDEDISSDGDEDAIVEVTPKLPKESSGIMA LQILVPFLLAGFGTVSAGMVLDIVQHWEVFRKVTEVFILVPALLGLKGNLEMTLASRLSTAVNIGKMDSPIEKWNLIIGN LALKQVQATVVGFLAAVAAIILGWIPEGKYYLDHSILLCSSSVATAFIASLLQGIIMVGVIVGSKKTGINPDNVATPIAA SFGDLITLAILAWISQGLYSCLETYYYISPLVGVFFLALTPIWIIIAAKHPATRTVLHSGWEPVITAMVISSIGGLILDT TVSDPNLVGIVVYTPVINGIGGNLVAIQASRISTYLHLHSIPGELPDEPKGCYYPFRTFFGPGVNNKSAQVLLLLVIPGH LIFLYTIHLMKSGHTSLTIIFIVVYLFGAVLQVFTLLWIADWMVHHFWRKGKDPDSFSIPYLTALGDLLGTALLALSFHF LWLIGDRDGDVGD*

Gene Symbol:	SLC41A2
Accession:	NM_001387128
Location:	EXON
Amino Acid Prediction:	S to A (nonsynonymous)
Amino Acid Position:	124

Amino Acid Sequence (Calculated using NCBI transcript definition)
MTNSKGRSITDKTSGGPSSGGGFVDWTLRLNTIQSDKFLNLLLSMVPVIYQKNQEDRHKKANGIWQDGLSTAVQTFSNRS EQHMEYHSFSEQSFHANNGHASSSCSQKYDDYANYNYCDGRETAETTAMLQDEDISSDGDEDAIVEVTPKLPKESSGIMA LQILVPFLLAGFGTVSAGMVLDIVQHWEVFRKVTEVFILVPALLGLKGNLEMTLASRLSTAVNIGKMDSPIEKWNLIIGN LALKQVQATVVGFLAAVAAIILGWIPEGKYYLDHSILLCSSSVATAFIASLLQGIIMVGVIVGSKKTGINPDNVATPIAA SFGDLITLAILAWISQGLYSCLETYYYISPLVGVFFLALTPIWIIIAAKHPATRTVLHSGWEPVITAMVISSIGGLILDT TVSDPNLVGIVVYTPVINGIGGNLVAIQASRISTYLHLHSIPGELPDEPKGCYYPFRTFFGPGVNNKSAQVLLLLVIPGH LIFLYTIHLMKSGHTSLTIIFIVVYLFGAVLQIGMLGLQASDAQKMK*

Gene Symbol:	SLC41A2
Accession:	NM_001352170
Location:	EXON
Amino Acid Prediction:	S to A (nonsynonymous)
Amino Acid Position:	124

Amino Acid Sequence (Calculated using NCBI transcript definition)
MTNSKGRSITDKTSGGPSSGGGFVDWTLRLNTIQSDKFLNLLLSMVPVIYQKNQEDRHKKANGIWQDGLSTAVQTFSNRS EQHMEYHSFSEQSFHANNGHASSSCSQKYDDYANYNYCDGRETAETTAMLQDEDISSDGDEDAIVEVTPKLPKESSGIMA LQILVPFLLAGFGTVSAGMVLDIVQHWEVFRKVTEVFILVPALLGLKGNLEMTLASRLSTAVNIGKMDSPIEKWNLIIGN LALKQVQATVVGFLAAVAAIILGWIPEGKYYLDHSILLCSSSVATAFIASLLQGIIMVGVIVGSKKTGINPDNVATPIAA SFGDLITLAILAWISQGLYSCLETYYYISPLVGVFFLALTPIWIIIAAKHPATRTVLHSGWEPVITAMVISSIGGLILDT TVSDPNLVGIVVYTPVINGIGGNLVAIQASRISTYLHLHSIPGELPDEPKGCYYPFRTFFGPGVNNKSAQVLLLLVIPGH LIFLYTIHLMKSGHTSLTIIFIVVYLFGAVLQVFTLLWIADWMVHHFWRKGKDPDSFSIPYLTALGDLLGTALLALSFHF LWLIGDRDGDVGD*

Gene Symbol:	SLC41A2
Accession:	NM_001387131
Location:	EXON
Amino Acid Prediction:	S to A (nonsynonymous)
Amino Acid Position:	124

Amino Acid Sequence (Calculated using NCBI transcript definition)
MTNSKGRSITDKTSGGPSSGGGFVDWTLRLNTIQSDKFLNLLLSMVPVIYQKNQEDRHKKANGIWQDGLSTAVQTFSNRS EQHMEYHSFSEQSFHANNGHASSSCSQKYDDYANYNYCDGRETAETTAMLQDEDISSDGDEDAIVEVTPKLPKESSGIMA LQILVPFLLAGFGTVSAGMVLDIVQHWEVFRKVTEVFILVPALLGLKGNLEMTLASRLSTAVNIGKMDSPIEKWNLIIGN LALKQVQATVVGFLAAVAAIILGWIPEGKYYLDHSILLCSSSVATAFIASLLQGIIMVGVIVGSKKTGINPDNVATPIAA SFGDLITLAILAWISQGLYSCLETYYYISPLVGVFFLALTPIWIIIAAKHPATRTVLHSGWEPVITAMVISRLVLKYVCV CVCVCVCVYVCLSLCVFYKHICTCILK*

Gene Symbol:	SLC41A2
Accession:	XM_047429650
Location:	EXON
Amino Acid Prediction:	S to A (nonsynonymous)
Amino Acid Position:	124

Amino Acid Sequence (Calculated using NCBI transcript definition)
MTNSKGRSITDKTSGGPSSGGGFVDWTLRLNTIQSDKFLNLLLSMVPVIYQKNQEDRHKKANGIWQDGLSTAVQTFSNRS EQHMEYHSFSEQSFHANNGHASSSCSQKYDDYANYNYCDGRETAETTAMLQDEDISSDGDEDAIVEVTPKLPKESSGIMA LQILVPFLLAGFGTVSAGMVLDIVQHWEVFRKVTEVFILVPALLGLKGNLEMTLASRLSTAVNIGKMDSPIEKWNLIIGN LALKQVQATVVGFLAAVAAIILGWIPEGKYYLDHSILLCSSSVATAFIASLLQGIIMVGVIVGSKKTGINPDNVATPIAA SFGDLITLAILAWISQGLYSCLETYYYISPLVGVFFLALTPIWIIIAAKHPATRTVLHSGWEPVITAMVISRTVKE*

Gene Symbol:	SLC41A2
Accession:	NM_001387126
Location:	EXON
Amino Acid Prediction:	S to A (nonsynonymous)
Amino Acid Position:	124

Amino Acid Sequence (Calculated using NCBI transcript definition)
MTNSKGRSITDKTSGGPSSGGGFVDWTLRLNTIQSDKFLNLLLSMVPVIYQKNQEDRHKKANGIWQDGLSTAVQTFSNRS EQHMEYHSFSEQSFHANNGHASSSCSQKYDDYANYNYCDGRETAETTAMLQDEDISSDGDEDAIVEVTPKLPKESSGIMA LQILVPFLLAGFGTVSAGMVLDIVQHWEVFRKVTEVFILVPALLGLKGNLEMTLASRLSTAVNIGKMDSPIEKWNLIIGN LALKQVQATVVGFLAAVAAIILGWIPEGKYYLDHSILLCSSSVATAFIASLLQGIIMVGVIVGSKKTGINPDNVATPIAA SFGDLITLAILAWISQGLYSCLETYYYISPLVGVFFLALTPIWIIIAAKHPATRTVLHSGWEPVITAMVISSIGGLILDT TVSDPNLVGIVVYTPVINGIGGNLVAIQASRISTYLHLHSIPGELPDEPKGCYYPFRTFFGPGVNNKSAQVLLLLVIPGH LIFLYTIHLMKSGHTSLTIIFIVVYLFGAVLQVFTLLWIADWMVHHFWRKGKDPDSFSIPYLTALGDLLGTALLALSFHF LWLIGDRDGDVGD*

Gene Symbol:	SLC41A2
Accession:	XM_047429648
Location:	EXON
Amino Acid Prediction:	S to A (nonsynonymous)
Amino Acid Position:	124

Amino Acid Sequence (Calculated using NCBI transcript definition)
MTNSKGRSITDKTSGGPSSGGGFVDWTLRLNTIQSDKFLNLLLSMVPVIYQKNQEDRHKKANGIWQDGLSTAVQTFSNRS EQHMEYHSFSEQSFHANNGHASSSCSQKYDDYANYNYCDGRETAETTAMLQDEDISSDGDEDAIVEVTPKLPKESSGIMA LQILVPFLLAGFGTVSAGMVLDIVQHWEVFRKVTEVFILVPALLGLKGNLEMTLASRLSTAVNIGKMDSPIEKWNLIIGN LALKQVQATVVGFLAAVAAIILGWIPEGKYYLDHSILLCSSSVATAFIASLLQGIIMVGVIVGSKKTGINPDNVATPIAA SFGDLITLAILAWISQGLYSCLETYYYISPLVGVFFLALTPIWIIIAAKHPATRTVLHSGWEPVITAMVISSIGGLILDT TVSDPNLVGIVVYTPVINGIGGNLVAIQASRISTYLHLHSIPGELPDEPKGCYYPFRTFFGPGVNNKSAQVLLLLVIPGH LIFLYTIHLMKSGHTSLTIIFIVVYLFGAVLQVFTLLWIADWMVHHFWRKGKDPDSFSIPYLTALGDLLGTALLALSFHF LWLIGDRDGDVGD*

Gene Symbol:	SLC41A2
Accession:	XM_005269179
Location:	EXON
Amino Acid Prediction:	S to A (nonsynonymous)
Amino Acid Position:	124

Amino Acid Sequence (Calculated using NCBI transcript definition)
MTNSKGRSITDKTSGGPSSGGGFVDWTLRLNTIQSDKFLNLLLSMVPVIYQKNQEDRHKKANGIWQDGLSTAVQTFSNRS EQHMEYHSFSEQSFHANNGHASSSCSQKYDDYANYNYCDGRETAETTAMLQDEDISSDGDEDAIVEVTPKLPKESSGIMA LQILVPFLLAGFGTVSAGMVLDIVQHWEVFRKVTEVFILVPALLGLKGNLEMTLASRLSTAVNIGKMDSPIEKWNLIIGN LALKQVQATVVGFLAAVAAIILGWIPEGKYYLDHSILLCSSSVATAFIASLLQGIIMVGVIVGSKKTGINPDNVATPIAA SFGDLITLAILAWISQGLYSCLETYYYISPLVGVFFLALTPIWIIIAAKHPATRTVLHSGWEPVITAMVISSIGGLILDT TVSDPNLVGIVVYTPVINGIGGNLVAIQASRISTYLHLHSIPGELPDEPKGCYYPFRTFFGPGVNNKSAQVLLLLVIPGH LIFLYTIHLMKSGHTSLTIIFIVVYLFGAVLQVFTLLWIADWMVHHFWRKGKDPDSFSIPYLTALGDLLGTALLALSFHF LWLIGDRDGDVGD*

Gene Symbol:	SLC41A2
Accession:	XM_017020016
Location:	INTRON

Gene Symbol:	SLC41A2
Accession:	XM_011538813
Location:	INTRON

ClinVar GRCh37	ClinVar GRCh38

Database	Acc Id	Source(s)
ClinVar	RCV004110454	CLINVAR
MedGen	CN169374	CLINVAR
NCBI Gene	SLC41A2	CLINVAR
OMIM	610802	CLINVAR