RGD:8626915 Rat Genome Database

RGD:8626915 Rat Genome Database

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Variant: RGD:8626915 - Homo sapiens

RGD ID:

8626915

ClinVar ID:

CV82059

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

Reference Nucleotide:

A

Variant Nucleotide:

C

Position

Assembly	Chr	Position
GRCh37	11	119,003,470
GRCh38	11	119,132,760

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

ClinVar Data

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NC_000011.10:g.119132760A>C NC_000011.9:g.119003470A>C NM_015517.4:c.854A>C NM_198971.2:c.854A>C More...		missense\|missense variant	not provided	Malignant melanoma, somatic

Variant Details

Variant Transcripts

Gene Symbol:	HINFP
Accession:	XM_017017499
Location:	EXON
Amino Acid Prediction:	K to T (nonsynonymous)
Amino Acid Position:	299

Amino Acid Sequence (Calculated using NCBI transcript definition)
MFKWNLHFNRRVKAMPPPGKVPRKENLWLQCEWGSCSFVCSTMEKFFEHVTQHLQQHLHGSGEEEEEEEEDDPLEEEFSC LWQECGFCSLDSSADLIRHVYFHCYHTKLKQWGLQALQSQADLGPCILDFQSRNVIPDIPDHFLCLWEHCENSFDNPEWF YRHVEAHSLCCEYEAVGKDNPVVLCGWKGCTCTFKDRSKLREHLRSHTQEKVVACPTCGGMFANNTKFLDHIRRQTSLDQ QHFQCSHCSKRFATERLLRDHMRNHVNHYKCPLCDMTCPLPSSLRNHMRFRHSEDRPFTCDCCDYSCKNLIDLQKHLDTH SEEPAYRCDFENCTFSARSLCSIKSHYRKVHEGDSEPRYKCHVCDKCFTRGNNLTVHLRKKHQFKWPSGHPRFRPFLSST PVTWIPGLLPSLMFVPYFASLGHFCIPLPGFAALYAPTSPGTRNMKMAICGCSWFATRV*

Gene Symbol:	HINFP
Accession:	NM_001351974
Location:	EXON
Amino Acid Prediction:	K to T (nonsynonymous)
Amino Acid Position:	38

Amino Acid Sequence (Calculated using NCBI transcript definition)
MRNHVNHYKCPLCDMTCPLPSSLRNHMRFRHSEDRPFTCDCCDYSCKNLIDLQKHLDTHSEEPAYRCDFENCTFSARSLC SIKSHYRKVHEGDSEPRYKCHVCDKCFTRGNNLTVHLRKKHQFKWPSGHPRFRYKEHEDGYMRLQLVRYESVELTQQLLR QPQEGSGLGTSLNESSLQGIILETVPGEPGRKEEEEEGKGSEGTALSASQDNPSSVIHVVNQTNAQGQQEIVYYVLSEAP GEPPPAPEPPSGGIMEKLQGIAEEPEIQMV*

Gene Symbol:	HINFP
Accession:	NM_001351961
Location:	EXON
Amino Acid Prediction:	K to T (nonsynonymous)
Amino Acid Position:	285

Amino Acid Sequence (Calculated using NCBI transcript definition)
MPPPGKVPRKENLWLQCEWGSCSFVCSTMEKFFEHVTQHLQQHLHGSGEEEEEEEEDDPLEEEFSCLWQECGFCSLDSSA DLIRHVYFHCYHTKLKQWGLQALQSQADLGPCILDFQSRNVIPDIPDHFLCLWEHCENSFDNPEWFYRHVEAHSLCCEYE AVGKDNPVVLCGWKGCTCTFKDRSKLREHLRSHTQEKVVACPTCGGMFANNTKFLDHIRRQTSLDQQHFQCSHCSKRFAT ERLLRDHMRNHVNHYKCPLCDMTCPLPSSLRNHMRFRHSEDRPFTCDCCDYSCKNLIDLQKHLDTHSEEPAYRCDFENCT FSARSLCSIKSHYRKVHEGDSEPRYKCHVCDKCFTRGNNLTVHLRKKHQFKWPSGHPRFRPFLSSTPVTWIPGLLPSLMF VPYFASLGHFCIPLPGFAALYAPTSPGTRNMKMAICGCSWFATRV*

Gene Symbol:	HINFP
Accession:	NM_001243259
Location:	EXON
Amino Acid Prediction:	K to T (nonsynonymous)
Amino Acid Position:	285

Amino Acid Sequence (Calculated using NCBI transcript definition)
MPPPGKVPRKENLWLQCEWGSCSFVCSTMEKFFEHVTQHLQQHLHGSGEEEEEEEEDDPLEEEFSCLWQECGFCSLDSSA DLIRHVYFHCYHTKLKQWGLQALQSQADLGPCILDFQSRNVIPDIPDHFLCLWEHCENSFDNPEWFYRHVEAHSLCCEYE AVGKDNPVVLCGWKGCTCTFKDRSKLREHLRSHTQEKVVACPTCGGMFANNTKFLDHIRRQTSLDQQHFQCSHCSKRFAT ERLLRDHMRNHVNHYKCPLCDMTCPLPSSLRNHMRFRHSEDRPFTCDCCDYSCKNLIDLQKHLDTHSEEPAYRCDFENCT FSARSLCSIKSHYRKVHEGDSEPRYKCHVCDKCFTRGNNLTVHLRKKHQFKWPSGHPRFRLGHFCIPLPGFAALYAPTSP GTRNMKMAICGCSWFATRV*

Gene Symbol:	HINFP
Accession:	NM_001351971
Location:	EXON
Amino Acid Prediction:	K to T (nonsynonymous)
Amino Acid Position:	38

Amino Acid Sequence (Calculated using NCBI transcript definition)
MRNHVNHYKCPLCDMTCPLPSSLRNHMRFRHSEDRPFTCDCCDYSCKNLIDLQKHLDTHSEEPAYRCDFENCTFSARSLC SIKSHYRKVHEGDSEPRYKCHVCDKCFTRGNNLTVHLRKKHQFKWPSGHPRFRYKEHEDGYMRLQLVRYESVELTQQLLR QPQEGSGLGTSLNESSLQGIILETVPGEPGRKEEEEEGKGSEGTALSASQDNPSSVIHVVNQTNAQGQQEIVYYVLSEAP GEPPPAPEPPSGGIMEKLQGIAEEPEIQMV*

Gene Symbol:	HINFP
Accession:	NM_001351960
Location:	EXON
Amino Acid Prediction:	K to T (nonsynonymous)
Amino Acid Position:	285

Amino Acid Sequence (Calculated using NCBI transcript definition)
MPPPGKVPRKENLWLQCEWGSCSFVCSTMEKFFEHVTQHLQQHLHGSGEEEEEEEEDDPLEEEFSCLWQECGFCSLDSSA DLIRHVYFHCYHTKLKQWGLQALQSQADLGPCILDFQSRNVIPDIPDHFLCLWEHCENSFDNPEWFYRHVEAHSLCCEYE AVGKDNPVVLCGWKGCTCTFKDRSKLREHLRSHTQEKVVACPTCGGMFANNTKFLDHIRRQTSLDQQHFQCSHCSKRFAT ERLLRDHMRNHVNHYKCPLCDMTCPLPSSLRNHMRFRHSEDRPFTCDCCDYSCKNLIDLQKHLDTHSEEPAYRCDFENCT FSARSLCSIKSHYRKVHEGDSEPRYKCHVCDKCFTRGNNLTVHLRKKHQFKWPSGHPRFRYKEHEDGYMRLQLVRYESVE LTQQLLRQPQEGSGLGTSLNESSLQGIILETVPGEPGRKEEEEEGKGSEGTALSASQDNPSSVIHVVNQTNAQGQQEIVY YVLSEAPGEPPPAPEPPSGGIMEKLQGIAEEPEIQMV*

Gene Symbol:	HINFP
Accession:	NM_001351966
Location:	EXON
Amino Acid Prediction:	K to T (nonsynonymous)
Amino Acid Position:	38

Amino Acid Sequence (Calculated using NCBI transcript definition)
MRNHVNHYKCPLCDMTCPLPSSLRNHMRFRHSEDRPFTCDCCDYSCKNLIDLQKHLDTHSEEPAYRCDFENCTFSARSLC SIKSHYRKVHEGDSEPRYKCHVCDKCFTRGNNLTVHLRKKHQFKWPSGHPRFRYKEHEDGYMRLQLVRYESVELTQQLLR QPQEGSGLGTSLNESSLQGIILETVPGEPGRKEEEEEGKGSEGTALSASQDNPSSVIHVVNQTNAQGQQEIVYYVLSEAP GEPPPAPEPPSGGIMEKLQGIAEEPEIQMV*

Gene Symbol:	HINFP
Accession:	NM_001351957
Location:	EXON
Amino Acid Prediction:	K to T (nonsynonymous)
Amino Acid Position:	308

Amino Acid Sequence (Calculated using NCBI transcript definition)
MPPPGKVPRKENLWLQCEWGSCSFVCSTMEKFFEHVTQHLQQHLHGSGEEEEEEEEDDPLVLQVEGDLSLGKCQTLPFKP LSTEEEFSCLWQECGFCSLDSSADLIRHVYFHCYHTKLKQWGLQALQSQADLGPCILDFQSRNVIPDIPDHFLCLWEHCE NSFDNPEWFYRHVEAHSLCCEYEAVGKDNPVVLCGWKGCTCTFKDRSKLREHLRSHTQEKVVACPTCGGMFANNTKFLDH IRRQTSLDQQHFQCSHCSKRFATERLLRDHMRNHVNHYKCPLCDMTCPLPSSLRNHMRFRHSEDRPFTCDCCDYSCKNLI DLQKHLDTHSEEPAYRCDFENCTFSARSLCSIKSHYRKVHEGDSEPRYKCHVCDKCFTRGNNLTVHLRKKHQFKWPSGHP RFRYKEHEDGYMRLQLVRYESVELTQQLLRQPQEGSGLGTSLNESSLQGIILETVPGEPGRKEEEEEGKGSEGTALSASQ DNPSSVIHVVNQTNAQGQQEIVYYVLSEAPGEPPPAPEPPSGGIMEKLQGIAEEPEIQMV*

Gene Symbol:	HINFP
Accession:	NM_001351965
Location:	EXON
Amino Acid Prediction:	K to T (nonsynonymous)
Amino Acid Position:	38

Amino Acid Sequence (Calculated using NCBI transcript definition)
MRNHVNHYKCPLCDMTCPLPSSLRNHMRFRHSEDRPFTCDCCDYSCKNLIDLQKHLDTHSEEPAYRCDFENCTFSARSLC SIKSHYRKVHEGDSEPRYKCHVCDKCFTRGNNLTVHLRKKHQFKWPSGHPRFRYKEHEDGYMRLQLVRYESVELTQQLLR QPQEGSGLGTSLNESSLQGIILETVPGEPGRKEEEEEGKGSEGTALSASQDNPSSVIHVVNQTNAQGQQEIVYYVLSEAP GEPPPAPEPPSGGIMEKLQGIAEEPEIQMV*

Gene Symbol:	HINFP
Accession:	NM_001351959
Location:	EXON
Amino Acid Prediction:	K to T (nonsynonymous)
Amino Acid Position:	285

Amino Acid Sequence (Calculated using NCBI transcript definition)
MPPPGKVPRKENLWLQCEWGSCSFVCSTMEKFFEHVTQHLQQHLHGSGEEEEEEEEDDPLEEEFSCLWQECGFCSLDSSA DLIRHVYFHCYHTKLKQWGLQALQSQADLGPCILDFQSRNVIPDIPDHFLCLWEHCENSFDNPEWFYRHVEAHSLCCEYE AVGKDNPVVLCGWKGCTCTFKDRSKLREHLRSHTQEKVVACPTCGGMFANNTKFLDHIRRQTSLDQQHFQCSHCSKRFAT ERLLRDHMRNHVNHYKCPLCDMTCPLPSSLRNHMRFRHSEDRPFTCDCCDYSCKNLIDLQKHLDTHSEEPAYRCDFENCT FSARSLCSIKSHYRKVHEGDSEPRYKCHVCDKCFTRGNNLTVHLRKKHQFKWPSGHPRFRYKEHEDGYMRLQLVRYESVE LTQQLLRQPQEGSGLGTSLNESSLQGIILETVPGEPGRKEEEEEGKGSEGTALSASQDNPSSVIHVVNQTNAQGQQEIVY YVLSEAPGEPPPAPEPPSGGIMEKLQGIAEEPEIQMV*

Gene Symbol:	HINFP
Accession:	NM_001351962
Location:	EXON
Amino Acid Prediction:	K to T (nonsynonymous)
Amino Acid Position:	285

Amino Acid Sequence (Calculated using NCBI transcript definition)
MPPPGKVPRKENLWLQCEWGSCSFVCSTMEKFFEHVTQHLQQHLHGSGEEEEEEEEDDPLEEEFSCLWQECGFCSLDSSA DLIRHVYFHCYHTKLKQWGLQALQSQADLGPCILDFQSRNVIPDIPDHFLCLWEHCENSFDNPEWFYRHVEAHSLCCEYE AVGKDNPVVLCGWKGCTCTFKDRSKLREHLRSHTQEKVVACPTCGGMFANNTKFLDHIRRQTSLDQQHFQCSHCSKRFAT ERLLRDHMRNHVNHYKCPLCDMTCPLPSSLRNHMRFRHSEDRPFTCDCCDYSCKNLIDLQKHLDTHSEEPAYRCDFENCT FSARSLCSIKSHYRKVHEGDSEPRYKCHVCDKCFTRGNNLTVHLRKKHQFKWPSGHPRFRPFLSSTPVTWIPGLLPSLMF VPYFASLGHFCIPLPGFAALYAPTSPGTRNMKMAICGCSWFATRV*

Gene Symbol:	HINFP
Accession:	NM_001351969
Location:	EXON
Amino Acid Prediction:	K to T (nonsynonymous)
Amino Acid Position:	38

Amino Acid Sequence (Calculated using NCBI transcript definition)
MRNHVNHYKCPLCDMTCPLPSSLRNHMRFRHSEDRPFTCDCCDYSCKNLIDLQKHLDTHSEEPAYRCDFENCTFSARSLC SIKSHYRKVHEGDSEPRYKCHVCDKCFTRGNNLTVHLRKKHQFKWPSGHPRFRYKEHEDGYMRLQLVRYESVELTQQLLR QPQEGSGLGTSLNESSLQGIILETVPGEPGRKEEEEEGKGSEGTALSASQDNPSSVIHVVNQTNAQGQQEIVYYVLSEAP GEPPPAPEPPSGGIMEKLQGIAEEPEIQMV*

Gene Symbol:	HINFP
Accession:	NM_001351963
Location:	EXON
Amino Acid Prediction:	K to T (nonsynonymous)
Amino Acid Position:	79

Amino Acid Sequence (Calculated using NCBI transcript definition)
MFANNTKFLDHIRRQTSLDQQHFQCSHCSKRFATERLLRDHMRNHVNHYKCPLCDMTCPLPSSLRNHMRFRHSEDRPFTC DCCDYSCKNLIDLQKHLDTHSEEPAYRCDFENCTFSARSLCSIKSHYRKVHEGDSEPRYKCHVCDKCFTRGNNLTVHLRK KHQFKWPSGHPRFRYKEHEDGYMRLQLVRYESVELTQQLLRQPQEGSGLGTSLNESSLQGIILETVPGEPGRKEEEEEGK GSEGTALSASQDNPSSVIHVVNQTNAQGQQEIVYYVLSEAPGEPPPAPEPPSGGIMEKLQGIAEEPEIQMV*

Gene Symbol:	HINFP
Accession:	NM_198971
Location:	EXON
Amino Acid Prediction:	K to T (nonsynonymous)
Amino Acid Position:	285

Amino Acid Sequence (Calculated using NCBI transcript definition)
MPPPGKVPRKENLWLQCEWGSCSFVCSTMEKFFEHVTQHLQQHLHGSGEEEEEEEEDDPLEEEFSCLWQECGFCSLDSSA DLIRHVYFHCYHTKLKQWGLQALQSQADLGPCILDFQSRNVIPDIPDHFLCLWEHCENSFDNPEWFYRHVEAHSLCCEYE AVGKDNPVVLCGWKGCTCTFKDRSKLREHLRSHTQEKVVACPTCGGMFANNTKFLDHIRRQTSLDQQHFQCSHCSKRFAT ERLLRDHMRNHVNHYKCPLCDMTCPLPSSLRNHMRFRHSEDRPFTCDCCDYSCKNLIDLQKHLDTHSEEPAYRCDFENCT FSARSLCSIKSHYRKVHEGDSEPRYKCHVCDKCFTRGNNLTVHLRKKHQFKWPSGHPRFRYKEHEDGYMRLQLVRYESVE LTQQLLRQPQEGSGLGTSLNESSLQGIILETVPGEPGRKEEEEEGKGSEGTALSASQDNPSSVIHVVNQTNAQGQQEIVY YVLSEAPGEPPPAPEPPSGGIMEKLQGIAEEPEIQMV*

Gene Symbol:	HINFP
Accession:	NM_001351972
Location:	EXON
Amino Acid Prediction:	K to T (nonsynonymous)
Amino Acid Position:	38

Amino Acid Sequence (Calculated using NCBI transcript definition)
MRNHVNHYKCPLCDMTCPLPSSLRNHMRFRHSEDRPFTCDCCDYSCKNLIDLQKHLDTHSEEPAYRCDFENCTFSARSLC SIKSHYRKVHEGDSEPRYKCHVCDKCFTRGNNLTVHLRKKHQFKWPSGHPRFRYKEHEDGYMRLQLVRYESVELTQQLLR QPQEGSGLGTSLNESSLQGIILETVPGEPGRKEEEEEGKGSEGTALSASQDNPSSVIHVVNQTNAQGQQEIVYYVLSEAP GEPPPAPEPPSGGIMEKLQGIAEEPEIQMV*

Gene Symbol:	HINFP
Accession:	NM_015517
Location:	EXON
Amino Acid Prediction:	K to T (nonsynonymous)
Amino Acid Position:	285

Amino Acid Sequence (Calculated using NCBI transcript definition)
MPPPGKVPRKENLWLQCEWGSCSFVCSTMEKFFEHVTQHLQQHLHGSGEEEEEEEEDDPLEEEFSCLWQECGFCSLDSSA DLIRHVYFHCYHTKLKQWGLQALQSQADLGPCILDFQSRNVIPDIPDHFLCLWEHCENSFDNPEWFYRHVEAHSLCCEYE AVGKDNPVVLCGWKGCTCTFKDRSKLREHLRSHTQEKVVACPTCGGMFANNTKFLDHIRRQTSLDQQHFQCSHCSKRFAT ERLLRDHMRNHVNHYKCPLCDMTCPLPSSLRNHMRFRHSEDRPFTCDCCDYSCKNLIDLQKHLDTHSEEPAYRCDFENCT FSARSLCSIKSHYRKVHEGDSEPRYKCHVCDKCFTRGNNLTVHLRKKHQFKWPSGHPRFRYKEHEDGYMRLQLVRYESVE LTQQLLRQPQEGSGLGTSLNESSLQGIILETVPGEPGRKEEEEEGKGSEGTALSASQDNPSSVIHVVNQTNAQGQQEIVY YVLSEAPGEPPPAPEPPSGGIMEKLQGIAEEPEIQMV*

Gene Symbol:	HINFP
Accession:	NM_001351964
Location:	EXON
Amino Acid Prediction:	K to T (nonsynonymous)
Amino Acid Position:	79

Amino Acid Sequence (Calculated using NCBI transcript definition)
MFANNTKFLDHIRRQTSLDQQHFQCSHCSKRFATERLLRDHMRNHVNHYKCPLCDMTCPLPSSLRNHMRFRHSEDRPFTC DCCDYSCKNLIDLQKHLDTHSEEPAYRCDFENCTFSARSLCSIKSHYRKVHEGDSEPRYKCHVCDKCFTRGNNLTVHLRK KHQFKWPSGHPRFRYKEHEDGYMRLQLVRYESVELTQQLLRQPQEGSGLGTSLNESSLQGIILETVPGEPGRKEEEEEGK GSEGTALSASQDNPSSVIHVVNQTNAQGQQEIVYYVLSEAPGEPPPAPEPPSGGIMEKLQGIAEEPEIQMV*

Gene Symbol:	HINFP
Accession:	XM_011542744
Location:	EXON
Amino Acid Prediction:	K to T (nonsynonymous)
Amino Acid Position:	299

Amino Acid Sequence (Calculated using NCBI transcript definition)
MFKWNLHFNRRVKAMPPPGKVPRKENLWLQCEWGSCSFVCSTMEKFFEHVTQHLQQHLHGSGEEEEEEEEDDPLEEEFSC LWQECGFCSLDSSADLIRHVYFHCYHTKLKQWGLQALQSQADLGPCILDFQSRNVIPDIPDHFLCLWEHCENSFDNPEWF YRHVEAHSLCCEYEAVGKDNPVVLCGWKGCTCTFKDRSKLREHLRSHTQEKVVACPTCGGMFANNTKFLDHIRRQTSLDQ QHFQCSHCSKRFATERLLRDHMRNHVNHYKCPLCDMTCPLPSSLRNHMRFRHSEDRPFTCDCCDYSCKNLIDLQKHLDTH SEEPAYRCDFENCTFSARSLCSIKSHYRKVHEGDSEPRYKCHVCDKCFTRGNNLTVHLRKKHQFKWPSGHPRFRYKEHED GYMRLQLVRYESVELTQQLLRQPQEGSGLGTSLNESSLQGIILETVPGEPGRKEEEEEGKGSEGTALSASQDNPSSVIHV VNQTNAQGQQEIVYYVLSEAPGEPPPAPEPPSGGIMEKLQGIAEEPEIQMV*

Gene Symbol:	HINFP
Accession:	NM_001351958
Location:	EXON
Amino Acid Prediction:	K to T (nonsynonymous)
Amino Acid Position:	285

Amino Acid Sequence (Calculated using NCBI transcript definition)
MPPPGKVPRKENLWLQCEWGSCSFVCSTMEKFFEHVTQHLQQHLHGSGEEEEEEEEDDPLEEEFSCLWQECGFCSLDSSA DLIRHVYFHCYHTKLKQWGLQALQSQADLGPCILDFQSRNVIPDIPDHFLCLWEHCENSFDNPEWFYRHVEAHSLCCEYE AVGKDNPVVLCGWKGCTCTFKDRSKLREHLRSHTQEKVVACPTCGGMFANNTKFLDHIRRQTSLDQQHFQCSHCSKRFAT ERLLRDHMRNHVNHYKCPLCDMTCPLPSSLRNHMRFRHSEDRPFTCDCCDYSCKNLIDLQKHLDTHSEEPAYRCDFENCT FSARSLCSIKSHYRKVHEGDSEPRYKCHVCDKCFTRGNNLTVHLRKKHQFKWPSGHPRFRYKEHEDGYMRLQLVRYESVE LTQQLLRQPQEGSGLGTSLNESSLQGIILETVPGEPGRKEEEEEGKGSEGTALSASQDNPSSVIHVVNQTNAQGQQEIVY YVLSEAPGEPPPAPEPPSGGIMEKLQGIAEEPEIQMV*

Variant Samples